GENE FOR AUTOSOMAL-DOMINANT CONGENITAL STATIONARY NIGHT BLINDNESS MAPS TO THE SAME REGION AS THE GENE FOR THE BETA-SUBUNIT OF THE ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE (PDEB) IN CHROMOSOME 4P16.3

被引：19

作者：

GAL, A

XU, SY

PICZENIK, Y

EIBERG, H

DUVIGNEAU, C

SCHWINGER, E

ROSENBERG, T

机构：

[1] NATL EYE CLIN VISUALLY IMPAIRED,DK-2900 HELLERUP,DENMARK

[2] UNIV COPENHAGEN,PANUM INST,INST MED GENET,DK-2200 COPENHAGEN N,DENMARK

来源：

HUMAN MOLECULAR GENETICS | 1994年 / 3卷 / 02期

关键词：

D O I：

10.1093/hmg/3.2.323

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We studied a large multigeneration Danish family with autosomal dominant congenital stationary night blindness. Both electrophysiological and psychophysical findings in affected family members were identical to those reported in patients from the 'Nougaret family'. The disease locus in the Danish family has now been mapped by demonstrating close linkage without recombination (Q = 0.00 at z(max) = 14.4) to the locus for alpha-L-iduronidase assigned to chromosome 4p16.3. Interestingly the gene for the beta-subunit of the rod photoreceptor cGMP-specific phosphodiesterase maps to the very same chromosomal region.

引用

页码：323 / 325

页数：3

共 17 条

[1] CHROMOSOME MAPPING OF THE ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE BETA-SUBUNIT GENE IN MOUSE AND HUMAN - TIGHT LINKAGE TO THE HUNTINGTON DISEASE REGION (4P16.3) [J].